ESPE Abstracts

Hyperinsulinism is a common cause of severe and persistent hypoglycaemia during the neonatal period. Eleven genes have been identified that lead to unregulated insulin secretion and hyperinsulinemic hypoglycaemia (HH). Inactivating mutations in UCP2 gene have been described in a very small number of patients with HH. UCP2 protein is an inner mitochondrial carrier protein and its loss of function causes enhanced glucose oxidation and increased intracellular ATP synthes...

Hyperinsulinemic hypoglycaemia (HH) is a common cause of severe and persistent hypoglycaemia during the neonatal period. Risk factors for neonatal transient hyperinsulinism are small-for-gestational age (SGA), perinatal asphyxia and maternal diabetes mellitus. This state of hyperinsulinism in SGA newborns could persist from weeks to years, resulting in an important comorbidity; its pathogenesis remains unknown.Objective: To describe the clinical-genetic ...

Introduction: Idiopathic intracranial hypertension (IIH) is a rare entity in childhood. It is characterized by signs and symptoms of increased intracranial pressure with normal neurological examination (except for possible paresis of the sixth cranial nerve), cerebrospinal fluid study and neuroimaging. The association between HII and treatment with growth hormone (GH) was first described in 1993 by the Food and Drug Administration and it has later been demonstrated. Incidence ...

Introduction: Central precocious puberty (CPP) at a very early age is usually caused by an organic lesion. The most common organic cause of CCP is the hypothalamic hamartoma (HH), which, associated with polysyndactyly, cleft palate and gelastic crises, clinically suggests the diagnosis of Pallister Hall Syndrome.Case: Infant 3-month-old woman with no family history. Polydactyly in hands and feet is evident from the second trimester of pregnancy. Born at ...

Background: The aim of therapy in patients with congenital adrenal hyperplasia (CAH) is to use glucocorticoid doses as low as possible to achieve adrenal suppression. Both chronically increased androgen secretion and increased glucocorticoid exposure may adversely affect adult height and in some patients this therapeutic balance is difficult to achieve. In these particular cases aromatase inhibitors (AI) could be indicated with de aim to reduce glucocorticoid doses avoiding th...

Background: Isolated persistence of Müllerian ducts in an otherwise normally virilised 46,XY newborn, a condition known as PMDS, is a disorder of sex development (DSD) due to a defect limited to AMH-dependent Müllerian duct regression.Objective and hypothesis: We report the case of a patient with PMDS and extremely low serum AMH in whom no mutations were detected in the AMH gene coding sequences. A single base deletion identified in th...

Background: Hypocalcemia is a common metabolic disorder in the neonatal period and may involve life-threatening situations. The aim is to analyze the main causes of hypocalcemia and its management.Objective and hypotheses: The aim is to analyze the main causes of hypocalcemia and its management.Method: Retrospective descriptive study by reviewing reports of 75 patients diagnosed of neonatal hypocalcemia (total Ca <7.6 mg/dl and...

Introduction: Pilocytic astrocytoma is the most common type of CNS astrocytoma in children. Clinical manifestations depend on its location and size and initial symptoms are usually related to neurological deficits or signs and symptoms of intracranial hypertension. Involvement of the hypothalamic area, pituitary infundibulum and leptomeningeal spread are exceptional. The case of a patient with central precocious puberty in whom the initial neuroimaging study oriented the diagn...

Background: Vitamin D is an essential hormone in the homeostasis of calcium. Its main source is sun exposure. Changes in lifestyle and migratory movements have favored the reappearance of vitamin deficiency in our country.Method: We present three cases of newborn with hypocalcemic seizures, secondary to maternal vitamin D deficiency. Mother’s origin was North Africa.Results: Case 1: 7 days old male brought for several episodes...

Background: Neurogenic diabetes insipidus (NDI) is extremely rare in the neonatal period. In most cases, it’s secondary to CNS injury. The clinical presentation in this group (particularly in preterm) is unspecific and a high degree of suspicion for the diagnosis is necessary.Objective and hypotheses: Diagnose NDI in a neonate with sodium and diuresis instability.Method: We present a case report.Results:...